|
1
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
|
|
21941437
|
IBIS
|
50 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Frequent [IBIS]
|
|
23776373
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001254)
|
Lethargy |
Frequent [IBIS]
|
|
23776373
|
IBIS
|
104 / 7739
|
|
4
|
(HPO:0001259)
|
Coma |
Frequent [IBIS]
|
|
23776373
|
IBIS
|
65 / 7739
|
|
5
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
|
23776373; 12942317
|
IBIS
|
191 / 7739
|
|
6
|
(HPO:0001942)
|
Metabolic acidosis |
Occasional [IBIS]
|
|
1779615
|
IBIS
|
81 / 7739
|
|
7
|
(HPO:0001399)
|
Hepatic failure |
Occasional [IBIS]
|
|
1779615
|
IBIS
|
80 / 7739
|
|
8
|
(HPO:0000718)
|
Aggressive behavior |
|
|
23776373
|
IBIS
|
109 / 7739
|
|
9
|
(HPO:0001289)
|
Confusion |
|
|
23776373; 12942317
|
IBIS
|
36 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
18753752
|
IBIS
|
454 / 7739
|
|
11
|
(HPO:0001510)
|
Growth delay |
|
|
18516804
|
IBIS
|
295 / 7739
|
|
12
|
(HPO:0002098)
|
Respiratory distress |
|
|
23776373
|
IBIS
|
75 / 7739
|
|
13
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23776373
|
IBIS
|
230 / 7739
|
|
14
|
(OMIM)
|
Neurobehavioral changes associated with hyperammonemia |
|
|
23776373
|
IBIS
|
1 / 7739
|
|
15
|
(OMIM)
|
[DEL]Increased serum glutamine |
|
|
23776373
|
IBIS
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal urinary orotic acid |
|
|
23776373
|
IBIS
|
1 / 7739
|
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
23776373
|
IBIS
|
240 / 7739
|
|
18
|
(HPO:0002315)
|
Headache |
|
|
23776373; 12942317
|
IBIS
|
175 / 7739
|
|
19
|
(HPO:0002018)
|
Nausea |
|
|
23776373
|
IBIS
|
44 / 7739
|
|
20
|
(HPO:0002789)
|
Tachypnea |
|
|
23776373
|
IBIS
|
48 / 7739
|
|
21
|
(HPO:0001262)
|
Somnolence |
|
|
23776373
|
IBIS
|
20 / 7739
|
|
22
|
(HPO:0002014)
|
Diarrhea |
|
|
23776373
|
IBIS
|
225 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
|
|
23776373
|
IBIS
|
467 / 7739
|
|
24
|
(HPO:0000711)
|
Restlessness |
|
|
23776373
|
IBIS
|
18 / 7739
|
|
25
|
(HPO:0002039)
|
Anorexia |
|
|
23776373
|
IBIS
|
62 / 7739
|
|
26
|
(HPO:0000737)
|
Irritability |
|
|
23776373; 12942317
|
IBIS
|
93 / 7739
|
|
27
|
(HPO:0000739)
|
Anxiety |
|
|
23776373; 12942317
|
IBIS
|
67 / 7739
|
|
28
|
(HPO:0002329)
|
Drowsiness |
|
|
23776373
|
IBIS
|
19 / 7739
|
|
29
|
(HPO:0001337)
|
Tremor |
|
|
23776373; 12942317
|
IBIS
|
200 / 7739
|
|
30
|
(HPO:0002076)
|
Migraine |
|
|
23776373
|
IBIS
|
41 / 7739
|
|
31
|
(MedDRA:10041953)
|
Staring |
|
|
23776373
|
IBIS
|
5 / 7739
|
|
32
|
(HPO:0001251)
|
Ataxia |
|
|
23776373
|
IBIS
|
413 / 7739
|
|
33
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
23776373
|
IBIS
|
26 / 7739
|
|
34
|
(HPO:0010550)
|
Paraplegia |
|
|
23776373
|
IBIS
|
10 / 7739
|
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
23776373
|
IBIS
|
1089 / 7739
|
|
36
|
(HPO:0000709)
|
Psychosis |
|
|
12942317
|
IBIS
|
61 / 7739
|
|
37
|
(HPO:0002353)
|
EEG abnormality |
|
|
12942317
|
IBIS
|
188 / 7739
|
|
38
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
23776373; 9877039
|
IBIS
|
212 / 7739
|
|
39
|
(HPO:0003572)
|
Low plasma citrulline |
|
|
23776373
|
IBIS
|
7 / 7739
|
|
40
|
(HPO:0001263)
|
Global developmental delay |
|
|
18753752
|
IBIS
|
853 / 7739
|
|
41
|
(HPO:0000505)
|
Visual impairment |
|
|
18753752
|
IBIS
|
297 / 7739
|
|
42
|
(HPO:0001298)
|
Encephalopathy |
|
|
23250120
|
IBIS
|
72 / 7739
|
|
43
|
(HPO:0002038)
|
Protein avoidance |
|
|
9877039
|
IBIS
|
7 / 7739
|
|
44
|
(HPO:0003217)
|
Hyperglutaminemia |
|
|
23776373; 9877039
|
IBIS
|
9 / 7739
|
|
45
|
(HPO:0002248)
|
Hematemesis |
|
|
1779615
|
IBIS
|
12 / 7739
|
|
46
|
(HPO:0002181)
|
Cerebral edema |
|
|
12942317
|
IBIS
|
19 / 7739
|
|
47
|
(HPO:0005961)
|
Hypoargininemia |
|
|
1779615
|
IBIS
|
7 / 7739
|
|
48
|
(HPO:0004755)
|
Supraventricular tachycardia |
|
|
24233332
|
IBIS
|
20 / 7739
|